NM_000355.4(TCN2):c.523G>A (p.Val175Met)
|
rs142791153
|
0.00134
|
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln)
|
rs200300254
|
0.00123
|
NM_052845.4(MMAB):c.10T>C (p.Cys4Arg)
|
rs146668962
|
0.00104
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
NM_000254.3(MTR):c.1862A>G (p.Asp621Gly)
|
rs61736440
|
0.00081
|
NM_002454.3(MTRR):c.446C>T (p.Ala149Val)
|
rs142714881
|
0.00077
|
NM_000355.4(TCN2):c.1237A>G (p.Arg413Gly)
|
rs148963479
|
0.00075
|
NM_000254.3(MTR):c.1141G>A (p.Ala381Thr)
|
rs144777709
|
0.00073
|
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs)
|
rs749272546
|
0.00062
|
NM_002454.3(MTRR):c.1182C>G (p.Asp394Glu)
|
rs149678769
|
0.00041
|
NM_002454.3(MTRR):c.1777C>T (p.Leu593Phe)
|
rs146415045
|
0.00039
|
NM_005050.4(ABCD4):c.406C>T (p.Arg136Trp)
|
rs145141432
|
0.00035
|
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)
|
rs140522266
|
0.00034
|
NM_015702.3(MMADHC):c.557T>C (p.Met186Thr)
|
rs61755260
|
0.00029
|
NM_172250.3(MMAA):c.1177G>A (p.Glu393Lys)
|
rs144313458
|
0.00027
|
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu)
|
rs201312386
|
0.00019
|
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln)
|
rs371753672
|
0.00017
|
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)
|
rs104893851
|
0.00017
|
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)
|
rs200094982
|
0.00014
|
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter)
|
rs121918242
|
0.00011
|
NM_005334.3(HCFC1):c.3495G>C (p.Gln1165His)
|
rs373327413
|
0.00008
|
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)
|
rs121918243
|
0.00007
|
NM_018368.4(LMBRD1):c.1338+2T>C
|
rs147270670
|
0.00007
|
NM_052845.4(MMAB):c.79C>T (p.Leu27Phe)
|
rs150895111
|
0.00007
|
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala)
|
rs138023744
|
0.00006
|
NM_018368.4(LMBRD1):c.562C>T (p.His188Tyr)
|
rs554554993
|
0.00006
|
NM_015506.3(MMACHC):c.329A>G (p.Asn110Ser)
|
rs781133955
|
0.00005
|
NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe)
|
rs199749473
|
0.00005
|
NM_005050.4(ABCD4):c.1346C>T (p.Thr449Met)
|
rs969369250
|
0.00004
|
NM_005050.4(ABCD4):c.362G>A (p.Arg121His)
|
rs201744101
|
0.00004
|
NM_015506.3(MMACHC):c.296T>C (p.Ile99Thr)
|
rs370229341
|
0.00004
|
NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter)
|
rs796051992
|
0.00003
|
NM_000254.3(MTR):c.2813G>T (p.Ser938Ile)
|
rs774910076
|
0.00002
|
NM_005334.3(HCFC1):c.3611G>A (p.Arg1204His)
|
rs782325660
|
0.00002
|
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln)
|
rs765822392
|
0.00002
|
NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter)
|
rs397509363
|
0.00002
|
NM_018368.4(LMBRD1):c.1339-1G>T
|
rs768709895
|
0.00002
|
NM_052845.4(MMAB):c.68G>A (p.Gly23Asp)
|
rs767706407
|
0.00002
|
NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter)
|
rs999844958
|
0.00002
|
NM_000254.3(MTR):c.2032G>T (p.Ala678Ser)
|
rs759130222
|
0.00001
|
NM_002454.3(MTRR):c.589G>C (p.Asp197His)
|
rs748186027
|
0.00001
|
NM_002454.3(MTRR):c.735A>C (p.Leu245Phe)
|
rs1343821146
|
0.00001
|
NM_005050.4(ABCD4):c.1093G>T (p.Gly365Cys)
|
rs201100662
|
0.00001
|
NM_005334.3(HCFC1):c.4376C>T (p.Thr1459Ile)
|
rs935130398
|
0.00001
|
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)
|
rs121918241
|
0.00001
|
NM_015702.3(MMADHC):c.154+1G>A
|
rs1385597423
|
0.00001
|
NM_015702.3(MMADHC):c.155-3C>T
|
rs773403678
|
0.00001
|
NM_172250.3(MMAA):c.1076G>A (p.Arg359Gln)
|
rs864309731
|
0.00001
|
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp)
|
rs761964238
|
0.00001
|
NM_000254.3(MTR):c.128_129delinsTT (p.Arg43Leu)
|
rs1660806761
|
|
NM_000254.3(MTR):c.1992_1993insATCA (p.Glu665fs)
|
rs1572278166
|
|
NM_000254.3(MTR):c.3053dup (p.Asn1018fs)
|
rs1400658126
|
|
NM_000254.3(MTR):c.3718G>T (p.Asp1240Tyr)
|
|
|
NM_000355.4(TCN2):c.766dup (p.Ser256fs)
|
rs1555895066
|
|
NM_002454.3(MTRR):c.1676+2T>C
|
|
|
NM_002454.3(MTRR):c.362G>A (p.Arg121Gln)
|
|
|
NM_002454.3(MTRR):c.903+1G>A
|
|
|
NM_002454.3(MTRR):c.916del (p.Ser306fs)
|
rs1212701617
|
|
NM_005050.4(ABCD4):c.1316C>T (p.Thr439Met)
|
rs200761248
|
|
NM_005050.4(ABCD4):c.1324C>T (p.Arg442Trp)
|
|
|
NM_005334.3(HCFC1):c.1031G>A (p.Arg344His)
|
rs2148589382
|
|
NM_005334.3(HCFC1):c.1133A>G (p.Asn378Ser)
|
|
|
NM_005334.3(HCFC1):c.2972C>G (p.Thr991Ser)
|
|
|
NM_005334.3(HCFC1):c.3260C>G (p.Thr1087Ser)
|
|
|
NM_005334.3(HCFC1):c.3506G>A (p.Arg1169His)
|
|
|
NM_005334.3(HCFC1):c.3707C>T (p.Ala1236Val)
|
|
|
NM_005334.3(HCFC1):c.3980C>T (p.Thr1327Met)
|
|
|
NM_005334.3(HCFC1):c.4006G>A (p.Ala1336Thr)
|
|
|
NM_005334.3(HCFC1):c.4064G>A (p.Arg1355His)
|
|
|
NM_005334.3(HCFC1):c.4410T>A (p.Ser1470Arg)
|
|
|
NM_005334.3(HCFC1):c.4475C>T (p.Pro1492Leu)
|
|
|
NM_005334.3(HCFC1):c.4619C>G (p.Thr1540Ser)
|
|
|
NM_005334.3(HCFC1):c.4727C>A (p.Pro1576Gln)
|
|
|
NM_005334.3(HCFC1):c.5192A>G (p.Asn1731Ser)
|
rs1376359622
|
|
NM_005334.3(HCFC1):c.5244C>T (p.Pro1748=)
|
|
|
NM_005334.3(HCFC1):c.5302G>A (p.Val1768Met)
|
|
|
NM_005334.3(HCFC1):c.5305G>A (p.Val1769Met)
|
|
|
NM_005334.3(HCFC1):c.790G>A (p.Gly264Arg)
|
|
|
NM_005334.3(HCFC1):c.939A>G (p.Thr313=)
|
|
|
NM_015506.3(MMACHC):c.140C>A (p.Thr47Asn)
|
|
|
NM_015506.3(MMACHC):c.2T>C (p.Met1Thr)
|
rs574983400
|
|
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs)
|
rs1311416761
|
|
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs)
|
rs796052000
|
|
NM_015506.3(MMACHC):c.352del (p.Gln118fs)
|
rs749264632
|
|
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)
|
rs796051998
|
|
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp)
|
rs140522266
|
|
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs)
|
rs796051999
|
|
NM_015506.3(MMACHC):c.471G>C (p.Trp157Cys)
|
rs1002571805
|
|
NM_015506.3(MMACHC):c.52C>T (p.Pro18Ser)
|
|
|
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro)
|
rs371753672
|
|
NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg)
|
rs564280688
|
|
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del)
|
rs796064513
|
|
NM_015506.3(MMACHC):c.81+1G>C
|
|
|
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu)
|
rs201025783
|
|
NM_016579.4(CD320):c.11G>C (p.Gly4Ala)
|
rs2232774
|
|
NM_016579.4(CD320):c.412C>A (p.Arg138Ser)
|
rs201166605
|
|
NM_018368.4(LMBRD1):c.78G>C (p.Leu26Phe)
|
|
|
NM_018368.4(LMBRD1):c.967_970del (p.Leu323fs)
|
rs771477094
|
|
NM_030943.4(AMN):c.1115_1123dup (p.Ala372_Leu374dup)
|
rs1428691401
|
|
NM_030943.4(AMN):c.297_299delinsAG (p.Glu100fs)
|
rs2139308896
|
|
NM_052845.4(MMAB):c.556C>G (p.Arg186Gly)
|
|
|
NM_172250.3(MMAA):c.*703C>T
|
rs548243828
|
|
NM_172250.3(MMAA):c.188_189del (p.Arg63fs)
|
|
|
NM_172250.3(MMAA):c.46C>A (p.Leu16Ile)
|
|
|
NM_172250.3(MMAA):c.542CTT[2] (p.Ser183del)
|
|
|